Canonical Allele Identifier: CA256668

Gene: RHO

Linked Data

• ClinVar Variation Id: 13021
• ClinVar RCV Id: RCV000013895 ; RCV001003167 ; RCV001213959 ; RCV001813740
• dbSNP Id: rs104893772
• MyVariant Identifiers: chr3:g.129247842G>A (hg19) ; chr3:g.129528999G>A (hg38)
• PubMed: PMID:1862076

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528999G>A , CM000665.2:g.129528999G>A	GRCh38
NC_000003.11:g.129247842G>A , CM000665.1:g.129247842G>A	GRCh37
NC_000003.10:g.130730532G>A	NCBI36
NG_009115.1:g.5361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.266G>A MANE Select	ENSP00000296271.3:p.Gly89Asp
ENST00000296271.3:c.266G>A	ENSP00000296271.3:p.Gly89Asp
NM_000539.3:c.266G>A MANE Select	NP_000530.1:p.Gly89Asp